Validating the Rett Syndrome Gross Motor Scale

© 2016 Downs et al. Rett syndrome is a pervasive neurodevelopmental disorder associated with a pathogenic mutation on the MECP2 gene. Impaired movement is a fundamental component and the Rett Syndrome Gross Motor Scale was developed to measure gross motor abilities in this population. The current study investigated the validity and reliability of the Rett Syndrome Gross Motor Scale. Video data showing gross motor abilities supplemented with parent report data was collected for 255 girls and women registered with the Australian Rett Syndrome Database, and the factor structure and relationships between motor scores, age and genotype were investigated. Clinical assessment scores for 38 girls and women with Rett syndrome who attended the Danish Center for Rett Syndrome were used to assess consistency of measurement. Principal components analysis enabled the calculation of three factor scores: Sitting, Standing and Walking, and Challenge. Motor scores were poorer with increasing age and those with the p.Arg133Cys, p.Arg294* or p.Arg306Cys mutation achieved higher scores than those with a large deletion. The repeatability of clinical assessment was excellent (intraclass correlation coefficient for total score 0.99, 95% CI 0.93–0.98). The standard error of measurement for the total score was 2 points and we would be 95% confident that a change 4 points in the 45-point scale would be greater than within-subject measurement error. The Rett Syndrome Gross Motor Scale could be an appropriate measure of gross motor skills in clinical practice and clinical trials

Recharge Data Package for the Immobilized Low-Activity Waste 2001 Performance Assessment

Lockheed Martin Hanford Company (LMHC) is designing and assessing the performance of disposal facilities to receive radioactive wastes that are currently stored in single- and double-shell tanks at the Hanford Site. The preferred method of disposing of the portion that is classified as immobilized low-activity waste (ILAW) is to vitrify the waste and place the product in near-surface, shallow-land burial facilities. The LMHC project to assess the performance of these disposal facilities is known as the Hanford ILAW Performance Assessment (PA) Activity, hereafter called the ILAW PA project. The goal of this project is to provide a reasonable expectation that the disposal of the waste is protective of the general public, groundwater resources, air resources, surface-water resources, and inadvertent intruders. Achieving this goal will require predictions of contaminant migration from the facility. To make such predictions will require estimates of the fluxes of water moving through the sediments within the vadose zone around and beneath the disposal facility. These fluxes, loosely called recharge rates, are the primary mechanism for transporting contaminants to the groundwater. Pacific Northwest National Laboratory (PNNL) assists LMHC in their performance assessment activities. One of the PNNL tasks is to provide estimates of recharge rates for current conditions and long-term scenarios involving the shallow-land disposal of ILAW. Specifically, recharge estimates are needed for a filly functional surface cover; the cover sideslope, and the immediately surrounding terrain. In addition, recharge estimates are needed for degraded cover conditions. The temporal scope of the analysis is 10,000 years, but could be longer if some contaminant peaks occur after 10,000 years. The elements of this report compose the Recharge Data Package, which provides estimates of recharge rates for the scenarios being considered in the 2001 PA. Table S.1 identifies the surface features and time periods evaluated. The most important feature, the surface cover, is expected to be the modified RCRA Subtitle C design. This design uses a 1-m-thick silt loam layer above sand and gravel filter layers to create a capillary break. A 0.15-m-thick asphalt layer underlies the filter layers to function as a backup barrier and to promote lateral drainage. Cover sideslopes are expected to be constructed with 1V:10H slopes using sandy gravel. The recharge estimates for each scenario were derived from lysimeter and tracer data collected by the ILAW PA and other projects and from modeling analyses

Differences in parental attitudes and tolerance of child exposure to and participation in gambling, alcohol and nicotine use

This study investigated parental attitudes toward child exposure to alcohol, nicotine (smoking tobacco) and gambling, via a questionnaire that examined parental tolerance with regard to hypothetical scenarios of exposure and participation, alongside perceptions of the importance of associated health promotion for each activity. It was hypothesised that parents would indicate significantly less tolerance of, and rate health promotion activity of greater importance for, nicotine and alcohol in comparison to gambling. Results from a sample of 500 UK based parents, showed significantly less tolerance for nicotine versus alcohol and gambling in all hypothetical scenarios of exposure and direct participation. Parents also reported significantly less tolerance surrounding child consumption of alcohol than gambling. Health promotion activity surrounding nicotine was rated significantly more important than that of alcohol and gambling. It is argued that greater parental concern surrounding nicotine was attributable to increased availability of knowledge surrounding associated risks of smoking behaviour within existing regulation and health promotion activity. Arguments are made for increased public awareness of the potential harms that may be associated with gambling behaviour, which may assist parents in making informed decisions regarding their children’s exposure to and participation in gambling-related activities

Using technology to deliver cancer follow-up : a systematic review

Peer reviewedPublisher PD

Forty years studying British politics : the decline of Anglo-America

The still present belief some 40 years ago that British politics was both exceptional and superior has been replaced by more theoretically sophisticated analyses based on a wider and more rigorously deployed range of research techniques, although historical analysis appropriately remains important. The American influence on the study of British politics has declined, but the European Union dimension has not been fully integrated. The study of interest groups has been in some respects a fading paradigm, but important questions related to democratic health have still to be addressed. Public administration has been supplanted by public policy, but economic policy remains under-studied. A key challenge for the future is the study of the management of expectations

Breed-Specific Hematological Phenotypes in the Dog: A Natural Resource for the Genetic Dissection of Hematological Parameters in a Mammalian Species

Remarkably little has been published on hematological phenotypes of the domestic dog, the most polymorphic species on the planet. Information on the signalment and complete blood cell count of all dogs with normal red and white blood cell parameters judged by existing reference intervals was extracted from a veterinary database. Normal hematological profiles were available for 6046 dogs, 5447 of which also had machine platelet concentrations within the reference interval. Seventy-five pure breeds plus a mixed breed control group were represented by 10 or more dogs. All measured parameters except mean corpuscular hemoglobin concentration (MCHC) varied with age. Concentrations of white blood cells (WBCs), neutrophils, monocytes, lymphocytes, eosinophils and platelets, but not red blood cell parameters, all varied with sex. Neutering status had an impact on hemoglobin concentration, mean corpuscular hemoglobin (MCH), MCHC, and concentrations of WBCs, neutrophils, monocytes, lymphocytes and platelets. Principal component analysis of hematological data revealed 37 pure breeds with distinctive phenotypes. Furthermore, all hematological parameters except MCHC showed significant differences between specific individual breeds and the mixed breed group. Twenty-nine breeds had distinctive phenotypes when assessed in this way, of which 19 had already been identified by principal component analysis. Tentative breed-specific reference intervals were generated for breeds with a distinctive phenotype identified by comparative analysis. This study represents the first large-scale analysis of hematological phenotypes in the dog and underlines the important potential of this species in the elucidation of genetic determinants of hematological traits, triangulating phenotype, breed and genetic predisposition

Hairy polyp of the pharynx obscured on physical examination by endotracheal tube, but diagnosed on brain imaging

We report a case of hairy polyp of the pharynx diagnosed on brain MRI in order to stress the need to examine carefully all tissues included on an imaging study, even those outside the clinically stated region of interest, and to remind practitioners to consider unusual as well as common etiologies for neonatal respiratory distress. Our case is unique in that thorough examination of a brain MRI, ordered in the evaluation of presumed central apnea, led to the correct diagnosis.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/46715/1/247_2005_Article_1500.pd

Rapid tests and urine sampling techniques for the diagnosis of urinary tract infection (UTI) in children under five years: a systematic review

Background: Urinary tract infection (UTI) is one of the most common sources of infection in children under five. Prompt diagnosis and treatment is important to reduce the risk of renal scarring. Rapid, cost-effective, methods of UTI diagnosis are required as an alternative to culture. Methods: We conducted a systematic review to determine the diagnostic accuracy of rapid tests for detecting UTI in children under five years of age. Results: The evidence supports the use of dipstick positive for both leukocyte esterase and nitrite (pooled LR+ = 28.2, 95% CI: 17.3, 46.0) or microscopy positive for both pyuria and bacteriuria (pooled LR+ = 37.0, 95% CI: 11.0, 125.9) to rule in UTI. Similarly dipstick negative for both LE and nitrite (Pooled LR- = 0.20, 95% CI: 0.16, 0.26) or microscopy negative for both pyuria and bacteriuria (Pooled LR- = 0.11, 95% CI: 0.05, 0.23) can be used to rule out UTI. A test for glucose showed promise in potty-trained children. However, all studies were over 30 years old. Further evaluation of this test may be useful. Conclusion: Dipstick negative for both LE and nitrite or microscopic analysis negative for both pyuria and bacteriuria of a clean voided urine, bag, or nappy/pad specimen may reasonably be used to rule out UTI. These patients can then reasonably be excluded from further investigation, without the need for confirmatory culture. Similarly, combinations of positive tests could be used to rule in UTI, and trigger further investigation

Converting between estimates of moderate-to-vigorous physical activity derived from raw accelerations measured at the wrist and from ActiGraph counts measured at the hip: The Rosetta Stone

The ability to compare published group-level estimates of objectively measured moderate-to-vigorous physical activity (MVPA) across studies continues to increase in difficulty. The objective of this study was to develop conversion equations and demonstrate their utility to compare estimates of MVPA derived from the wrist and hip. Data from three studies of youth (N = 232, 9-12yrs, 50% boys) who concurrently wore a hip-worn ActiGraph and a wrist-worn GENEActiv for 7-days. ActiGraph hip count data were reduced using four established cutpoints: Evenson, Pate, Puyau, and Freedson 3MET. Wrist accelerations were reduced using the Hildebrand MVPA 200 mg threshold. Conversion equations were developed on a randomly selected subsample of 132 youth. Equations were cross-validated and absolute error, absolute percent error, and modified Bland-Altman plots were evaluated for conversion accuracy. Across equations R2adj was 0.51-0.56 with individual-level absolute error in minutes ranging from 7 (wrist-to-hip Puyau) to 14.5 minutes (wrist-to-hip Freedson 3MET) and absolute percent differences ranging from 13.9%-24.5%. Group-level cross-validation to convert hip-to-wrist MVPA resulted in average absolute percent errors ranging from 3.1%-4.9%. Conversion of wrist- to-hip MVPA resulted in average absolute percent errors ranging from 3.0%-10.0%. We recommend the use of these equations to compare published estimates of MVPA between the wear-site cut-point combinations presented

The ROS Scavenger, NAC, Regulates Hepatic Vα14iNKT Cells Signaling during Fas mAb-Dependent Fulminant Liver Failure

Uncontrolled systemic activation of the immune system is an early initiating event that leads to development of acute fulminant liver failure (FLF) in mice after treatment with agonistic Fas mAb. In this study, we demonstrate that treatment of mice with N-acetylcysteine (NAC), an ROS scavenger and glutathione (GSH) precursor, almost completely abolished Fas mAb-induced FLF through suppression of Vα14iNKT cell activation, IFN-γ signaling, apoptosis and nitrotyrosine formation in liver. In addition, enrichment of the liver with GSH due to Vα14iNKT cells deficiency, induced an anti-inflammatory response in the liver of Jα18−/− mice that inhibited apoptosis, nitrotyrosine formation, IFN-γ signaling and effector functions. In summary, we propose a novel and previously unrecognized pro-inflammatory and pro-apoptotic role for endogenous ROS in stimulating Th1 signaling in Vα14iNKT cells to promote the development of FLF. Therefore, our study provides critical new insights into how NAC, a ROS scavenger, regulates Th1 signaling in intrahepatic Vα14iNKT cells to impact inflammatory and pathological responses